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Connexins are trans-membrane proteins that have a role in communication and transferring of ions and small signaling molecules between cells.8 This locus is already been reported in Pakistani and Mediterranean families supporting that GJB2 is the main gene for inherited sensorineural deafness.9 More than 90 variants in GJB2 have been reported and meta-analysis in different ethnic group confirmed a strong association of GJB2 mutation with HL in different population.10
A structure-activity relationship linking non-planar PCBs to functional deficits of neural crest cells: New roles for connexins. Arch Toxicol 92, 1225-1247.
Connexins have several regulatory sites on the cytoplasmic side
Kikuta et al., "Connexins regulate cell functions in pancreatic stellate cells," Pancreas, vol.
GJs are made by docking of two hexameric hemichannels (connexons) of two apposed cells, thus composed of 12 proteins called connexins. More than 20 members have been identified with a wide variability in their tissue distribution .
The connexins are structurally related proteins that assemble to form gap junctions which play an important role in cell-to-cell electrical communication and cardiac rhythmicity.
Suzumura, "Gap junctions and hemichannels composed of connexins: potential therapeutic targets for neurodegenerative diseases," Frontiers in Cellular Neuroscience, vol.
Functional role of connexins and pannexins in the interaction between vascular and nervous system.
Both Cx43 and Cx45 are the principal connexins which are expressed in the left ventricle .
Maxeiner et al., "Expression of connexins during differentiation and regeneration of skeletal muscle: Functional relevance of connexin43," Journal of Cell Science, vol.
The gap junction proteins, connexins, are important regulators of intercellular communication and cell growth, and mutations or loss of function of gap junctions have been found in a few diseases, including cancer.
Connexins and pannexins in physiology, pharmacology and disease.
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